List of variants in gene ATRX reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000489.6(ATRX):c.371-2A>G	rs1557148369
NM_000489.6(ATRX):c.4506_4507insGTAGAG (p.Glu1502_Arg1503insValGlu)	rs2148436383
NM_000489.6(ATRX):c.4509A>T (p.Arg1503Ser)	rs1057517997
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1])	rs797045406
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg)	rs122445093
NM_000489.6(ATRX):c.5215C>T (p.Arg1739Ter)
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)	rs1448764008
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val)	rs2148260943
NM_000489.6(ATRX):c.5342T>C (p.Ile1781Thr)	rs2148259855
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe)	rs1057521987
NM_000489.6(ATRX):c.668G>A (p.Cys223Tyr)	rs1557142844
NM_000489.6(ATRX):c.687G>C (p.Leu229Phe)
NM_000489.6(ATRX):c.7147G>C (p.Asp2383His)	rs1057518225
NM_000489.6(ATRX):c.7219C>T (p.Arg2407Ter)	rs1557034957
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp)	rs1057524153

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.